Canonical Allele Identifier: CA359781442

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1208784813
• gnomAD v3: 5-56875294-T-G
• gnomAD v4: 5-56875294-T-G
• MyVariant Identifiers: chr5:g.56171121T>G (hg19) ; chr5:g.56875294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875294T>G , CM000667.2:g.56875294T>G	GRCh38
NC_000005.9:g.56171121T>G , CM000667.1:g.56171121T>G	GRCh37
NC_000005.8:g.56206878T>G	NCBI36
NG_031884.1:g.65222T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1949T>G MANE Select	ENSP00000382423.3:p.Val650Gly
ENST00000399503.3:c.1949T>G	ENSP00000382423.3:p.Val650Gly
NM_005921.1:c.1949T>G	NP_005912.1:p.Val650Gly
XM_005248519.3:c.1571T>G	XP_005248576.2:p.Val524Gly
XM_011543406.1:c.1694T>G	XP_011541708.1:p.Val565Gly
XM_011543407.1:c.1686+2289T>G	XP_011541709.1:n.1686+2289T>G
XM_011543408.1:c.1949T>G	XP_011541710.1:p.Val650Gly
XM_017009484.1:c.1538T>G	XP_016864973.1:p.Val513Gly
XM_017009485.1:c.1460T>G	XP_016864974.1:p.Val487Gly
XR_001742068.2:n.1980T>G
NM_005921.2:c.1949T>G MANE Select	NP_005912.1:p.Val650Gly